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Institution	Date	Title	Author
臺大學術典藏	2020-12-09T01:38:30Z	Fatty acid oxidation disorders in a chinese population in Taiwan	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.
臺大學術典藏	2020-12-09T01:38:30Z	Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing	Kim J.C.; NI-CHUNG LEE; Hwu P.W.L.; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.
臺大學術典藏	2020-12-09T01:38:30Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:30Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:29Z	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:29Z	Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests	Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:29Z	Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin	Wang J.; Cui H.; NI-CHUNG LEE; Hwu W.-L.; Chien Y.-H.; Craigen W.J.; Wong L.-J.; Zhang V.W.
臺大學術典藏	2020-12-09T01:38:29Z	AADC deficiency. Occurring in humans, modeled in rodents.	Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏	2020-12-09T01:38:28Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; Chien Y.-H.; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:28Z	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	NI-CHUNG LEE; Shieh Y.-D.; Chien Y.-H.; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:28Z	Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy	Lee I.-C.; NI-CHUNG LEE; Lu J.-J.; Su P.-H.
臺大學術典藏	2020-12-09T01:38:28Z	Serial cytokine expressions in infants with incontinentia pigmenti	Liao S.-L.; Lai S.-H.; Huang J.-L.; NI-CHUNG LEE; Lee W.-I.
臺大學術典藏	2020-12-09T01:38:27Z	Pompe disease: Early diagnosis and early treatment make a difference	Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:27Z	Lung toxicity of hydroxypropyl-β-cyclodextrin infusion	Chien Y.-H.; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:27Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	Hwu W.-L.; NI-CHUNG LEE; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:26Z	Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wang S.-F.; Chiang S.-C.; Hsu L.-W.
臺大學術典藏	2020-12-09T01:38:26Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.; Hwu W.-L.; Huang S.-C.; NI-CHUNG LEE; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-12-09T01:38:26Z	Outcome of early-treated type III Gaucher disease patients	NI-CHUNG LEE; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:25Z	Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots	Chen P.-W.; NI-CHUNG LEE; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:25Z	Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector	NI-CHUNG LEE; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:25Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Chien Y.-H.;Ni-Chung Lee;Tsai Y.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:24Z	Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair	Lo F.-S.; Wang C.-J.; Wong M.-C.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:24Z	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Chien Y.-H.; NI-CHUNG LEE; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:24Z	Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening	Chien Y.-H.; Goldstein J.L.; Hwu W.-L.; Smith P.B.; NI-CHUNG LEE; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P.
臺大學術典藏	2020-12-09T01:38:24Z	Congenital malformations in newborns - A challenge unmet for decades	NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:23Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:23Z	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	NI-CHUNG LEE; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:23Z	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Hsiue H.-C.; NI-CHUNG LEE; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L.
臺大學術典藏	2020-12-09T01:38:22Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	Peng S.S.-F.; Hwu W.-L.; NI-CHUNG LEE; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:22Z	Integrated care for Down syndrome	NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:22Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; NI-CHUNG LEE; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T.
臺大學術典藏	2020-12-09T01:38:22Z	Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography	Liu T.-T.; Fan Y.-L.; Niu D.-M.; Chien Y.-H.; Chou Y.-Y.; NI-CHUNG LEE; Hsiao K.-J.; Chiu Y.-H.; Liu Y.-N.
臺大學術典藏	2020-12-09T01:38:21Z	Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia	Hsiao C.-C.; NI-CHUNG LEE; Huang P.-H.; Tsai T.-H.
臺大學術典藏	2020-12-09T01:38:21Z	Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia	Li M.-J.; Yang Y.-L.; NI-CHUNG LEE; Jou S.-T.; Lu M.-Y.; Chang H.-H.; Lin K.-H.; Peng C.-T.; Lin D.-T.
臺大學術典藏	2020-12-09T01:38:21Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; NI-CHUNG LEE; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-09T01:38:20Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Ni-Chung Lee;Yang S.-Y.;Chieh J.-J.;Huang P.-T.;Chang L.-M.;Chiu Y.-N.;Huang A.-C.;Chien Y.-H.;Hwu W.-L.;Chiu M.-J.; NI-CHUNG LEE; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J.
臺大學術典藏	2020-12-09T01:38:20Z	A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature review	Yang S.-H.; Lin H.-I.; Lin C.-H.; NI-CHUNG LEE; Hsueh S.-J.; Hsueh S.-J.;Ni-Chung Lee;Yang S.-H.;Lin H.-I.;Lin C.-H.
臺大學術典藏	2020-12-09T01:38:20Z	Down syndrome in diverse populations	Kruszka P.;Porras A.R.;Sobering A.K.;Ikolo F.A.;La Qua S.;Shotelersuk V.;Chung B.H.Y.;Mok G.T.K.;Uwineza A.;Mutesa L.;Moresco A.;Obregon M.G.;Sokunbi O.J.;Kalu N.;Joseph D.A.;Ikebudu D.;Ugwu C.E.;Okoromah C.A.N.;Addissie Y.A.;Pardo K.L.;Brough J.J.;Ni-Chung Lee;Girisha K.M.;Patil S.J.;Ng I.S.L.;Min B.C.W.;Jamuar S.S.;Tibrewal S.;Wallang B.;Ganesh S.;Sirisena N.D.;Dissanayake V.H.W.;Paththinige C.S.;Prabodha L.B.L.;Richieri-Costa A.;Muthukumarasamy P.;Thong M.-K.;Jones K.L.;Abdul-Rahman O.A.;Ekure E.N.;Adeyemo A.A.;Summar M.;Linguraru M.G.;Muenke M.; Kruszka P.; Porras A.R.; Sobering A.K.; Ikolo F.A.; La Qua S.; Shotelersuk V.; Chung B.H.Y.; Mok G.T.K.; Uwineza A.; Mutesa L.; Moresco A.; Obregon M.G.; Sokunbi O.J.; Kalu N.; Joseph D.A.; Ikebudu D.; Ugwu C.E.; Okoromah C.A.N.; Addissie Y.A.; Pardo K.L.; Brough J.J.; NI-CHUNG LEE; Girisha K.M.; Patil S.J.; Ng I.S.L.; Min B.C.W.; Jamuar S.S.; Tibrewal S.; Wallang B.; Ganesh S.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Prabodha L.B.L.; Richieri-Costa A.; Muthukumarasamy P.; Thong M.-K.; Jones K.L.; Abdul-Rahman O.A.; Ekure E.N.; Adeyemo A.A.; Summar M.; Linguraru M.G.; Muenke M.
臺大學術典藏	2020-12-09T01:38:19Z	A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome	Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:19Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-09T01:38:19Z	Gene therapy with modified U1 small nuclear RNA	Hwu W.-L.;Lee Y.-M.;Ni-Chung Lee; Hwu W.-L.; Lee Y.-M.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:19Z	Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease	Zeng Y.-T.;Hwu W.-L.;Torng P.-C.;Ni-Chung Lee;Shieh J.-Y.;Lu L.;Chien Y.-H.; Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; NI-CHUNG LEE; Shieh J.-Y.; Lu L.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:18Z	Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions”	Hsiao C.-C.;Ni-Chung Lee;Lin C.-W.;Tsai T.-H.; Hsiao C.-C.; NI-CHUNG LEE; Lin C.-W.; Tsai T.-H.
臺大學術典藏	2020-12-09T01:38:18Z	Newborn screening for severe combined immunodeficiency in Taiwan	Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L.; Chien Y.-H.;Yu H.-H.;Ni-Chung Lee;Ho H.-C.;Kao S.-M.;Lu M.-Y.;Jaing T.-H.;Lee W.-I.;Chang K.-W.;Shieh C.-C.;Chen J.-S.;Chiang S.-C.;Liu C.-C.;Hwu W.-L.; Chien Y.-H.; Yu H.-H.; NI-CHUNG LEE; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.
臺大學術典藏	2020-12-09T01:38:18Z	Russell–Silver syndrome presenting with ambiguous genitalia	Chang I.-F.;Chien Y.-H.;Tsai W.-Y.;Ni-Chung Lee; Chang I.-F.; Chien Y.-H.; Tsai W.-Y.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:17Z	Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan	Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee;Li M.-H.; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Li M.-H.
臺大學術典藏	2020-12-09T01:38:17Z	Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial	Chien Y.-H.;Ni-Chung Lee;Tseng S.-H.;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:17Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Ni-Chung Lee;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; NI-CHUNG LEE; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:16Z	A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice	Ni-Chung Lee;Hwu W.-L.;Muramatsu S.-I.;Falk D.J.;Byrne B.J.;Cheng C.-H.;Shih N.-C.;Chang K.-L.;Tsai L.-K.;Chien Y.-H.; NI-CHUNG LEE; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:16Z	Williams–Beuren syndrome in diverse populations	Gill A.D.; Boyle A.P.; Hu T.; Addissie Y.A.; Mok G.T.K.; Tekendo-Ngongang C.; Fieggen K.; Prijoles E.J.; Tanpaiboon P.; Honey E.; Luk H.-M.; Lo I.F.M.; Thong M.-K.; Muthukumarasamy P.; Jones K.L.; Belhassan K.; Ouldim K.; El Bouchikhi I.; Bouguenouch L.; Shukla A.; Girisha K.M.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Mishra R.; Kisling M.S.; Ferreira C.R.; de Herreros M.B.; NI-CHUNG LEE; Jamuar S.S.; Lai A.; Tan E.S.; Ying Lim J.; Wen-Min C.B.; Gupta N.; Lotz-Esquivel S.; Badilla-Porras R.; Hussen D.F.; El Ruby M.O.; Ashaat E.A.; Patil S.J.; Dowsett L.; Eaton A.; Innes A.M.; Shotelersuk V.; Badoe ?.; Wonkam A.; Obregon M.G.; Chung B.H.Y.; Trubnykova M.; La Serna J.; Gallardo Jugo B.E.; Ch?vez Pastor M.; Abarca Barriga H.H.; Megarbane A.; Kozel B.A.; van Haelst M.M.; Stevenson R.E.; Summar M.; Adeyemo A.A.; Morris C.A.; Moretti-Ferreira D.; Linguraru M.G.; Muenke M.; Huckstadt V.; de Souza D.H.; Moresco A.; Porras A.R.; Kruszka P.; Kruszka P.;Porras A.R.;De Souza D.H.;Moresco A.;Huckstadt V.;Gill A.D.;Boyle A.P.;Hu T.;Addissie Y.A.;Mok G.T.K.;Tekendo-Ngongang C.;Fieggen K.;Prijoles E.J.;Tanpaiboon P.;Honey E.;Luk H.-M.;Lo I.F.M.;Thong M.-K.;Muthukumarasamy P.;Jones K.L.;Belhassan K.;Ouldim K.;El Bouchikhi I.;Bouguenouch L.;Shukla A.;Girisha K.M.;Sirisena N.D.;Dissanayake V.H.W.;Paththinige C.S.;Mishra R.;Kisling M.S.;Ferreira C.R.;De Herreros M.B.;Ni-Chung Lee;Jamuar S.S.;Lai A.;Tan E.S.;Ying Lim J.;Wen-Min C.B.;Gupta N.;Lotz-Esquivel S.;Badilla-Porras R.;Hussen D.F.;El Ruby M.O.;Ashaat E.A.;Patil S.J.;Dowsett L.;Eaton A.;Innes A.M.;Shotelersuk V.;Badoe ?.;Wonkam A.;Obregon M.G.;Chung B.H.Y.;Trubnykova M.;La Serna J.;Gallardo Jugo B.E.;Ch?Vez Pastor M.;Abarca Barriga H.H.;Megarbane A.;Kozel B.A.;Van Haelst M.M.;Stevenson R.E.;Summar M.;Adeyemo A.A.;Morris C.A.;Moretti-Ferreira D.;Linguraru M.G.;Muenke M.

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